research Four Hypotrichosis Families With Mutations in the Gene LSS Presenting With and Without Neurodevelopmental Phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
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research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Autosomal Recessive Hereditary Hypotrichosis Simplex: A Case Report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Hypotrichosis 14: Novel Variants of the LSS Gene in Five Chinese Families and Insights from Literature Review
New LSS gene variants help understand congenital hypotrichosis 14 better.
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